There are great differences in the clinical process and prognosis of the chronic lymphocytic leukemia(CLL), the precise diagnosis is of importance to judge prognosis, guide therapy and research pathogenesis mechanism. The variable region mutation of immunoglobulin heavy chain is the most stable molecular index of disease prediction. The patients with sequence of IgHV somatic high mutation usually have a better prognosis and a more longer survival time than those without the mutation. The recent study has found that specific IgHV gene expression also can predict the disease outcome in some cases regardless of mutation. The clinical prognosis of CLL patients can be further stratified by specific IgHV gene expression. In this review, the progress in the research of the clinical significance of specific IgHV gene expression in the chronic lymphocytic leukemia is summarized.
Humans ; Immunoglobulin Variable Region ; genetics ; Immunoglobulin gamma-Chains ; genetics ; Leukemia, Lymphocytic, Chronic, B-Cell ; diagnosis ; genetics ; Mutation ; Prognosis

OBJECTIVETo evaluate the clinical significance of IgH and TCR gamma gene rearrangement in plasma free DNA in patients with non-Hodgkin Lymphoma (NHL).

METHODSPlasma free DNA in 74 patients with NHL were extracted and identified by Globin gene. IgH (FR3A/VLJH), TCR gamma (TVG/TJX) clonal rearrangements were amplified by PCR and compared with results of mononuclear cell DNA and pathological biopsy sample DNA.

RESULTSPlasma free DNAs were successfully obtained from 58 cases (35 B-NHL and 23 T-NHL) of newly diagnostic, refractory and relapsed NHL out of total 74 patients (78.4%), but not found in the rest 16 patients in remission. Of 35 B-NHL cases, 31 showed IgH rearrangement (88.6%), and none with TCR gamma rearrangement; of 23 T-NHL cases, 8 showed TCR gamma rearrangement (34.8%), and 2 with IgH gene rearrangement synchronously. In comparison with the results of IgH and TCR gamma gene rearrangement in biopsy samples in 30 B-NHL cases, 26 cases in plasma free DNA (86.7%) and 24 in biopsy samples (80%) were positive (P > 0.05). In 20 T-NHL patients, 7 cases in plasma cell-free DNA (35%) and 6 cases in biopsy samples (30%) were positive (P >0.05).

CONCLUSIONSTumor-derived DNA could be detected in plasma from underlying cancer patients. For NHL patients, detecting IgH and TCR gamma gene rearrangement in plasma free DNA has the same clinical significance as in biopsy samples.

Adolescent ; Adult ; Aged ; Child ; DNA ; blood ; Female ; Gene Rearrangement, gamma-Chain T-Cell Antigen Receptor ; Humans ; Immunoglobulin Heavy Chains ; genetics ; Lymphoma, Non-Hodgkin ; blood ; genetics ; Male ; Middle Aged ; Young Adult

OBJECTIVETo assess the value of histologic examination, immunohistochemistry and gene rearrangement studies in the diagnosis and subtyping of lymphoma with bone marrow involvement (BMI).

METHODSSixty-two formalin fixed, paraffin embedded bone marrow biopsy specimens were studied. Immunohistochemical and immunoglobulin heavy chain (IgH) and T-cell receptor gene rearrangement studies were performed in each case.

RESULTSChronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) demonstrated mainly and interstitial infiltration by dysplastic lymphocytes, with intertrabecular nodular arrangement or in dispersion. Sometimes, pseudofollicles may be noted. A predominantly para- or intertrabecular infiltration by nodules of lymphoma cells was characteristic of follicle center cell lymphoma (FCL) cases. In most lymphoplasmacytoid lymphoma (LPL) cases, there was infiltration by small lymphocytes and plasma cells between bony trabeculae. In marginal zone cell lymphoma (MZL), vague inter- or para-trabecular nodules of polymorphic lymphoma cells with clear cytoplasm might be noted. Small to medium-sized dysplastic lymphocytes, with absence of paraimmunoblasts or pseudofollicles, were the most frequent findings in mantle cell lymphoma (MCL). Hairy cell leukemia (HCL) might be identified by the presence of distinct cell membrane and abundant clear cytoplasm, resulting in a "fried-egg" appearance. Tumor cells with large nuclei and eosinophilic nucleoli were characteristically seen in lymphomatosis diffusa (Hodgkin's disease, HD). In T-cell non-Hodgkin lymphoma with BMI, dispersed or clusters of intertrabecular neoplastic lymphoid cells with clear cytoplasm and gyriform nuclei were often observed. In diffuse large B-cell lymphoma (DLBL), the tumor cells were large and isolated or arranged in diffuse pattern. Immunohistochemically, a panel of markers, including CD3 CD20, and CD79 are valuable for the differential diagnosis of T- and B-cell lymphomas. The neoplastic cells in MCL were cyclin D1- and CD5-positive, while BCL2- and CD10-positivity was characteristic for FCL. CLL/SLL cells might be stained with CD5 and CD23, in addition to CD20 and CD79. CD25 expression might be noted in HCL: the positivity for CD15, CD30 and fascin suggests HD. There was a higher positivity rate for IgH gene rearrangement in CLL/SLL, LPL MZL and DLBL (80%, 60%, 66.7%, 70% respectively) and for T- cell receptor gamma gene rearrangement in T-cell lymphoma (66.7%).

CONCLUSIONA combination of histopathology, immunohistochemistry and IgH / T-cell receptor gamma gene rearrangement studies may be of aid to the diagnosis and subtyping of lymphoma with BMI, especially if there is only a small number of tumor cells present in the specimen.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Bone Marrow ; chemistry ; pathology ; Diagnosis, Differential ; Female ; Gene Rearrangement ; Gene Rearrangement, gamma-Chain T-Cell Antigen Receptor ; Humans ; Immunoglobulin Heavy Chains ; genetics ; Leukemia, Lymphocytic, Chronic, B-Cell ; pathology ; Lymphoma ; classification ; immunology ; pathology ; Lymphoma, Follicular ; pathology ; Male ; Middle Aged

Aged ; Antigens, CD20 ; analysis ; Gene Rearrangement ; Humans ; Immunoblastic Lymphadenopathy ; genetics ; metabolism ; pathology ; Immunoglobulin Heavy Chains ; genetics ; Immunohistochemistry ; Lymph Nodes ; metabolism ; pathology ; Lymphoma, T-Cell ; genetics ; metabolism ; pathology ; Male ; Polymerase Chain Reaction ; RNA, Viral ; analysis ; Receptors, Antigen, T-Cell, gamma-delta ; genetics ; Reed-Sternberg Cells ; metabolism ; pathology

OBJECTIVETo investigate the polymorphism of FcgammaRIIIb genotype, IgG G2m(23) factor and their associations with the susceptibility to aggressive periodontitis.

METHODSDNA of white blood cells and serum from 21 aggressive periodontitis patients and 26 healthy controls was extracted. Genotype of FcgammaRIIIb and phenotype of G2m(23) factor was determined by allele-specific PCR and dot immunobinding assay respectively.

RESULTSThe frequency of FcgammaRIIIb-NA1/NA1 genotype in aggressive periodontitis patients was significantly higher than in healthy controls (P < 0.05). The ratio of subjects with FcgammaRIIIb-NA1/NA1 genotype and positive G2m(23) factor was higher in aggressive periodontitis patients (11/21) than in health controls (5/26) (P < 0.05). However, no statistical difference in distribution of G2m(23) factor alone was observed between patients and controls.

CONCLUSIONSThis study indicates that FcgammaRIIIb-NA1/NA1 genotype may be a susceptible genotype to aggressive periodontitis in Chinese population. Subjects with FcgammaRIIIb NA1/NA1 genotype and positive G2m(23) factor may be more susceptible to aggressive periodontitis.

Adult ; Antigens, CD ; genetics ; Asian Continental Ancestry Group ; genetics ; Female ; GPI-Linked Proteins ; Genetic Predisposition to Disease ; Genotype ; Humans ; Immunoglobulin Gm Allotypes ; genetics ; Male ; Periodontitis ; genetics ; Receptors, IgG ; genetics